Canonical Allele Identifier: CA364458151

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52344524G>A (hg19) ; chr6:g.52479726G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479726G>A , CM000668.2:g.52479726G>A	GRCh38
NC_000006.11:g.52344524G>A , CM000668.1:g.52344524G>A	GRCh37
NC_000006.10:g.52452483G>A	NCBI36
NG_016760.1:g.64531G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1579G>A MANE Select	ENSP00000360107.4:p.Ala527Thr
ENST00000480623.6:c.1579G>A	ENSP00000434498.2:p.Ala527Thr
ENST00000635760.1:c.1255G>A	ENSP00000489765.1:p.Ala419Thr
ENST00000635812.1:c.*880G>A	ENSP00000490859.1:n.*880G>A
ENST00000635866.1:c.*1448G>A	ENSP00000489866.1:n.*1448G>A
ENST00000635911.1:n.3097G>A
ENST00000635984.1:c.1255G>A	ENSP00000489921.1:p.Ala419Thr
ENST00000635996.1:c.1579G>A	ENSP00000490256.1:p.Ala527Thr
ENST00000636107.1:c.1579G>A	ENSP00000489680.1:p.Ala527Thr
ENST00000636311.1:n.1473G>A
ENST00000636343.1:c.1245G>A
ENST00000636379.1:c.1291G>A	ENSP00000490622.1:p.Ala431Thr
ENST00000636398.1:c.1279G>A	ENSP00000489654.1:n.1279G>A
ENST00000636489.1:c.1522G>A	ENSP00000489998.1:p.Ala508Thr
ENST00000636616.1:n.1140G>A
ENST00000636702.1:c.1549G>A	ENSP00000489623.1:p.Ala517Thr
ENST00000636954.1:c.1522G>A	ENSP00000489966.1:p.Ala508Thr
ENST00000637089.1:c.1579G>A	ENSP00000489854.1:p.Ala527Thr
ENST00000637121.1:n.1381G>A
ENST00000637263.1:c.1579G>A	ENSP00000489700.1:p.Ala527Thr
ENST00000637340.1:n.3504G>A
ENST00000637353.1:c.1579G>A	ENSP00000490441.1:p.Ala527Thr
ENST00000637602.1:c.*1280G>A	ENSP00000490074.1:n.*1280G>A
ENST00000637849.1:n.1643G>A
ENST00000637892.1:n.1783G>A
ENST00000371068.9:c.1579G>A	ENSP00000360107.4:p.Ala527Thr
ENST00000480623.5:c.*1999G>A	ENSP00000434498.1:n.*1999G>A
ENST00000538167.2:c.1522G>A	ENSP00000444521.1:p.Ala508Thr
NM_001172420.1:c.1522G>A	NP_001165891.1:p.Ala508Thr
NM_018100.3:c.1579G>A	NP_060570.2:p.Ala527Thr
NR_033327.1:n.3051G>A
NM_018100.4:c.1579G>A MANE Select	NP_060570.2:p.Ala527Thr
NM_001172420.2:c.1522G>A	NP_001165891.1:p.Ala508Thr
NR_033327.2:n.2905G>A